ArticleNeurology. Genetics2016
Paroxysmal hypnogenic dyskinesia is associated with mutations in the PRRT2 gene.
Article in Neurology. Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 36 citations in OpenAlex.
- One case of acute encephalopathy associated with 16p11.2 deletion and PRRT2 gene mutation.BMC neurology · 2026Article
- Evaluating the Performance ofCombinatorial chemistry & high throughput screening · 2025Article
- A case presentation of paroxysmal hypnogenic dyskinesia: clinical features and management.Sleep and biological rhythms · 2024Article
- Article
- Phenotypic characterisation of paroxysmal dyskinesia in Sphynx cats.Journal of feline medicine and surgery · 2022Article
- Genetic updates on paroxysmal dyskinesias.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Paroxysmal Genetic Movement Disorders and Epilepsy.Frontiers in neurology · 2021Review
- The Spectrum ofFrontiers in neurology · 2021Review
- Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.International journal of molecular sciences · 2020Review
- Novel and de novo point and large microdeletion mutation in PRRT2-related epilepsy.Brain and behavior · 2020Article
- PRRT2 frameshift mutation reduces its mRNA stability resulting loss of function in paroxysmal kinesigenic dyskinesia.Biochemical and biophysical research communications · 2020Article
- Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2-related disorders.CNS neuroscience & therapeutics · 2020Article
- PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?Italian journal of pediatrics · 2019Review
- Paroxysmal Movement Disorders: Recent Advances.Current neurology and neuroscience reports · 2019Review
- Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes.Annals of clinical and translational neurology · 2018Review
- Benign Infantile Epilepsy Mimicking Reflex Anoxic Seizures in an Infant with PRRT2 Gene Mutation.Indian journal of pediatrics · 2018Article
Corrections and comments
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Authors and funding
16 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo explore the potential causative genes of paroxysmal hypnogenic dyskinesia (PHD), which was initially considered a subtype of paroxysmal dyskinesia and has been recently considered a form of nocturnal frontal lobe epilepsy (NFLE).
methodsEleven patients with PHD were recruited. Mutations in proline-rich region transmembrane protein-2 (PRRT2), myofibrillogenesis regulator 1 (MR-1), solute carrier family 2, member 1 (SLC2A1), calcium-activated potassium channel alpha subunit (KCNMA1), cholinergic receptor, nicotinic, alpha 4 (CHRNA4), cholinergic receptor, nicotinic, beta 2 (CHRNB2), cholinergic receptor, nicotinic, alpha 2 (CHRNA2), and potassium channel subfamily T member 1 (KCNT1) were screened by direct sequencing.
resultsTwo PRRT2 mutations were identified in patients with typical PHD. A mutation of c.649dupC (p.Arg217ProfsX8) was identified in a patient with PHD and his father who was diagnosed with paroxysmal kinesigenic dyskinesia. An additional mutation of c.640G>C (p.Ala214Pro) was identified in a sporadic patient and his asymptomatic mother. No mutations were found in the other screened genes.
conclusionsThe present study identified PRRT2 mutations in PHD, extending the phenotypic spectrum of PRRT2 and supporting the classification of PHD as a subtype of paroxysmal dyskinesia but not NFLE. Based on the results of this study, screening for the PRRT2 mutation is recommended in patients with PHD.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.